Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1762617 (weakness)
 37,932 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise-diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.
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PMID:[X-chromosomal recessive spinobulbar muscular atrophy (Kennedy type). Description of a family, clinical aspects, molecular genetics, differential diagnosis and therapy]. 975 16

A 67-year-old man developed slowly progressive muscular weakness in the bilateral upper extremities (C5- 7 regions) without signs of sensory deficit following the cervical radiation therapy (70.5Gy) for right laryngeal cancer 4 years before. These clinical signs resembled those of lower motor neuron disease. MRI with gadolinium-DTPA, however, showed enhancement in the bilateral C5 and C6 anterior roots, suggesting the cervical radiculopathy due to radiotherapy. It is known that radiation to the spinal cord can lead to "selective anterior horn cell injury". This is the first case report of the cervical radiation radiculopathy, which, if without MRI, might be classified into selective anterior horn cell injury. Suggestion is made for the hypothesis that the spinal motoneuron loss in radiation myelopathy would be caused by retrograde degeneration due to anterior root damages.
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PMID:[A case of cervical radiation radiculopathy resembling motor neuron disease]. 980 93

Hereditary canine spinal muscular atrophy (HCSMA) is a dominantly inherited motor neuron disease in Brittany spaniels that is clinically characterized by progressive muscle weakness leading to paralysis. Histopathologically, degeneration is confined to motor neurons with accumulation of phosphorylated neurofilaments in axonal internodes. Cyclin-dependent kinase 5 (CDK5), a kinase related to the cell cycle kinase cdc2, phosphorylates neurofilaments and regulates neurofilament dynamics. We examined CDK5 activity, protein levels, and cellular immunoreactivity in nervous tissue from dogs with HCSMA, from closely age-matched controls and from dogs with other neurological diseases. On immunoblot analysis, CDK5 protein levels were increased in the HCSMA dogs (by approximately 1.5-fold in both the cytosolic and the particulate fractions). CDK5 activity was significantly increased (by approximately 3-fold) in the particulate fractions in the HCSMA dogs compared to all controls. The finding that CDK5 activity was increased in the young HCSMA homozygotes with the accelerated form of the disease, who do not show axonal swellings histologically, suggests that alterations in CDK5 occurs early in the pathogenesis, prior to the development of significant neurofilament pathology. Immunocytochemically, there was strong CDK5 staining of the nuclei, cytoplasm and axonal processes of the motor neurons in both control dogs and dogs with HCSMA. Further immunocytochemical studies demonstrated CDK5 staining where neurofilaments accumulated, in axonal swellings in the dogs with HCSMA. Our observations suggest phosphorylation-dependent events mediated by CDK5 occur in canine motor neuron disease.
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PMID:Alterations in cyclin-dependent protein kinase 5 (CDK5) protein levels, activity and immunocytochemistry in canine motor neuron disease. 982 44

Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X chromosome (Xq 11-12) with expanded CAG triplets (more than 347 repeats). We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in the carrier asymptomatic woman. This is the first Brazilian family with genetic molecular diagnosis of Kennedy's disease. This disease must be included in the differential diagnosis of motor neuron disease since it has a distinct prognosis and genetic counseling is mandatory to the carriers.
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PMID:[X-linked recessive bulbospinal muscular atrophy (Kennedy's disease). A family study]. 985 Jul 62

We observed seven patients who developed their first signs and symptoms of motor neuron disease together with signs of protrusion/prolapse of intervertebral disc. The age of the patients was between 55 and 67, of which one female and six male patients. All of them suffered from cervical spine pain or low back pain. The female patient and one male patient developed weakness in the small feet muscles as initial symptom and they complained of paresthesia along dermatomes L5S1 and of severe pain. The other five patients developed wasting of the hands muscles. They had a rather mild pain in the cervical spine and early morning paresthesia as well as severe causalgia along dermatomes C5C6 or C6C7. After the diagnosis of compressive radiculopathy in all patients, they underwent surgical treatment and very soon developed very severe progression of muscle wasting which included muscles of limbs, trunk and bulbar innervated muscles with signs and symptoms of lower and upper motor neuron lesion. Five patients died from 12 to 15 months after surgical treatment and two patients are still living.
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PMID:Severe progression of ALS/MND after intervertebral discectomy. 985 48

Spastic paretic stiff-legged gait is a frequently encountered gait problem in patients with traumatic brain injury, as well as in many other patients with upper motor neuron disease. Formerly, spasticity of the quadriceps was considered to be the sole cause of stiff-legged gait. Quantitative gait analysis, however, may implicate hip flexor weakness or poor ankle mechanics as the cause of stiff-legged gait. We discuss the use of an algorithm to evaluate stiff-legged gait in traumatic brain injury using a quantitative gait analysis system such that the specific etiology of stiff-legged gait can be identified and can serve as the basis of a treatment plan.
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PMID:An algorithm to assess stiff-legged gait in traumatic brain injury. 1019 72

A 65-year-old man who had muscle weakness and dysarthria was admitted for investigation of motor neuron disease. He had lost 12 kg of weight in 6 months. Neurological findings disclosed upper and lower motor neuron disturbances with normal sensory nerve function, and needle electromyography showed a neurogenic pattern. Laboratory findings on admission demonstrated dilutional hyponatraemia due to an excessive secretion of antidiuretic hormone (ADH). Based on these findings, the patient was diagnosed as having the syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with amyotrophic lateral sclerosis (ALS). During the night of first hospital day, the patient complained of severe dyspnoea, and mechanical ventilation was commenced. Following the mechanical ventilation, plasma ADH levels and serum sodium concentration were normalized. We propose that respiratory failure secondary to the atrophy of respiratory muscle might be responsible for the development of SIADH.
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PMID:Syndrome of inappropriate secretion of antidiuretic hormone associated with amyotrophic lateral sclerosis in respiratory failure. 1038 39

Amyotrophic Lateral Sclerosis (ALS) is a progressive motor neuron disease that frequently causes death within five years of diagnosis. The majority of deaths are due to pulmonary complications resulting from respiratory muscle weakness and bulbar involvement. A promising respiratory intervention is the recently introduced bi-level intermittent positive pressure (Bipap), which is a noninvasive ventilator modality shown to reduce the work of breathing and improve not only gas exchange, but also exercise tolerance and sleep quality. The aim of this study was to assess the utility of Bipap in prolonging survival in ALS. We retrospectively analyzed the results of Bipap use in 122 patients followed at Hahnemann University. All patients in this study were offered Bipap when their forced vital capacity (FVC) dropped below 50% of predicted value. Group 1 (n=38) accepted Bipap and used it more than 4 h/day. Group 2 (n=32) did not tolerate Bipap well and used it less than 4 h/day. Group 3 (n=52) refused to try Bipap. There was a statistically significant improvement in survival from initiation of Bipap in Group 1 (14.2 months) compared to Group 2 (7.0 months, P=0.002) or 3 (4.6 months, P<0.001) respectively. Furthermore, when the slope of vital capacity decline was examined, the group that used Bipap more than 4 h/day had slower decline in vital capacity (-3.5% change/month) compared to Group 2 (-5.9% change/month, P=0.02) and Group 3 (-8.3% change/month, P<0.001). We conclude that Bipap can significantly prolong survival and slow the decline of FVC in ALS. Our results suggest that all patients with ALS be offered Bipap when their FVC drops below 50%, at the onset of dyspnea, or when a rapid drop in %FVC is noted.
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PMID:Bipap improves survival and rate of pulmonary function decline in patients with ALS. 1038 39

A 66-year-old man with dyspnea on exertion suffered a cardiac arrest and was referred to our hospital after emergency room intubation. Chest X-ray films detected no abnormalities. Blood gas analysis showed hypoxemia with normal A-aDO 2, and pulmonary function tests revealed combined ventilatory impairment. Chest fluoroscopy revealed weakness of diaphragmatic motion. No other abnormalities were found on initial examination. It was difficult to wean the patient off mechanical ventilation and identify the cause of alveolar hypoventilation. On the 60th hospital day, a neurological examination and electromyography disclosed fasciculation and denervation of the left biceps and pectoralis major muscle. These findings supported the diagnosis of motor neuron disease (MND). Although respiratory insufficiency as an initial symptom of MND is unusual, physicians should be aware of the possibility of MND in cases of alveolar hypoventilation of unknown etiology.
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PMID:[Motor neuron disease with respiratory insufficiency as primary manifestation]. 1039 Sep 73

Juvenile amyotrophic lateral sclerosis (ALS) is a form of chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs with onset prior to age 25 years. We report the clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile ALS linked to the chromosome 9q34 region (ALS4). Patients ranged in age from 12 to 85 years (mean 45 years) and the mean age of onset was 17 years. Distal weakness and atrophy was associated with pyramidal signs (43/49) and normal sensation (44/49). Motor conduction studies (n = 8) showed reduced evoked amplitudes and normal conduction parameters. Sensory conduction studies (n = 8), quantitative sensory testing (n = 4) and intracutaneous sensory fibres in skin biopsies (n = 6) were normal in all patients tested. Electromyography showed distal more than proximal chronic partial denervation and reinnervation (n = 8). Post-mortem spinal cord tissue demonstrated atrophic spinal cords with marked loss of anterior horn cells and degeneration of corticospinal tracts, as well as loss of neurons in the dorsal root ganglia and degeneration of the posterior columns. Axonal spheroids were present in the grey matter of the spinal cord, the dorsal root entry zones and the peripheral nerves. Motor and sensory roots, as well as peripheral nerves, showed significant axonal loss. Swellings were prominent around motor neurons, probably representing changes in presynaptic terminals. These studies define autosomal dominant juvenile ALS linked to the chromosome 9q34 region (ALS4) and extend the clinical, pathological and genetic heterogeneity of familial ALS and juvenile ALS.
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PMID:Autosomal dominant juvenile amyotrophic lateral sclerosis. 1043 Aug 37


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